GENE REFERENCE / HGNC:11191

SOX11

SRY-box transcription factor 11

protein-coding gene2p25.2Gene information

What does this gene do?

The SOX11 gene provides instructions for making a protein that plays a critical role in the development of the brain and nerve cells (neurons). This protein is a transcription factor, which means it attaches (binds) to specific regions of DNA and coordinates with other proteins to turn on particular genes.

Studies suggest that the SOX11 protein may also be able to regulate the activity of genes involved in brain and nerve cell development through a different process known as chromatin remodeling. Chromatin is the network of DNA and protein that packages DNA into chromosomes. The structure of chromatin can be changed (remodeled) to alter how tightly regions of DNA are packaged. Chromatin remodeling is one way gene expression is regulated during development; when DNA is tightly packed, gene expression is often lower than when DNA is loosely packed.

The activity (expression) of the SOX11 gene is controlled by chromatin remodeling by special protein groups called SWI/SNF complexes.

Source: MedlinePlus, National Library of Medicine. Source publication: 2021-08-31. Source review: 2021-08.

ClinGen reviews

ClinGen reviews the evidence linking a particular gene to a condition. Each rating below describes the strength of that link. It does not classify a variant in your DNA file.

Condition	Inheritance	Evidence
SOX11-related complex neurodevelopmental disorder with or without congenital anomaliesMONDO:0100626 · Evaluated 2025-05-20	Autosomal dominant	DefinitiveIntellectual Disability and Autism Gene Curation Expert Panel

ClinVar records

These numbers show what has been submitted to ClinVar. They cannot tell you how likely you are to have a condition.

Submitted alleles: 505
Submissions for variants in or overlapping this gene: 676
Submissions explicitly reporting this gene: 621
Alleles reported pathogenic / likely pathogenic: 94
VariationIDs with uncertain significance: 234
VariationIDs with conflicting classifications: 30

The rows count different things: alleles, submissions or VariationIDs. Their categories can overlap, so do not add them together. Pathogenic/likely pathogenic counts exclude structural variants that merely overlap a gene. A dash in the source means “not reported,” not zero.

NCBI produces the gene-summary file each week using counts recorded at the start of the month. The numbers may differ from those on the live ClinVar website. Read the field definitions ↗

View this gene in ClinVar ↗

YOUR DNA FILE

Can your DNA file tell you about SOX11?

From a DNA test kit (such as 23andMe, AncestryDNA or MyHeritage). These kits check a fixed list of about 600,000 to 700,000 positions across your whole genome. ClinVar lists 94 alleles in SOX11 reported as pathogenic or likely pathogenic. A kit checks only some of these positions, and often none of them.

From whole genome sequencing (a VCF file). Sequencing reads most of your genome. Your file lists the places where your DNA differs from the reference genome. Some regions are hard to sequence, including parts of some genes that have near-identical copies elsewhere, and a VCF file does not record which positions were read well.

If a variant is not in your file, that does not mean you don’t have it.

What BioDecode checks

BioDecode compares every variant in your file with ClinVar, on your own computer. For each match, it shows the ClinVar classification, the review status and the condition it was reported for. Your file is not uploaded.

A ClinVar classification applies to one particular variant and the condition it was reported for. It does not tell you about other variants in SOX11.

BioDecode cannot fill gaps in your test, diagnose a condition or replace clinical testing.

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